ClinVar Miner

List of variants in gene MTR studied for abdominal and pelvic region disorder

Included ClinVar conditions (956):
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Total variants: 34
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HGVS dbSNP
MTR, IVS3AS, A-G, -166
MTR, IVS6AS, G-A, LYS203
NC_000001.10:g.(?_236958984)_(237060964_?)del
NM_000254.2(MTR):c.*16del rs67705775
NM_000254.2(MTR):c.1067T>C (p.Leu356Ser) rs1286773616
NM_000254.2(MTR):c.1074T>C (p.Ser358=)
NM_000254.2(MTR):c.1228G>C (p.Ala410Pro) rs121913582
NM_000254.2(MTR):c.1522G>C (p.Glu508Gln)
NM_000254.2(MTR):c.1559A>G (p.Tyr520Cys)
NM_000254.2(MTR):c.155G>A (p.Arg52Gln) rs12749581
NM_000254.2(MTR):c.1575A>T (p.Lys525Asn) rs199700767
NM_000254.2(MTR):c.1753C>T (p.Arg585Ter) rs121913580
NM_000254.2(MTR):c.1862A>G (p.Asp621Gly) rs61736440
NM_000254.2(MTR):c.1954-6A>G rs1553321372
NM_000254.2(MTR):c.1992_1993insATCA (p.Glu665fs)
NM_000254.2(MTR):c.2165T>C (p.Leu722Pro) rs1553321807
NM_000254.2(MTR):c.2304+3A>C
NM_000254.2(MTR):c.2476del (p.Asp825_Ile826insTer)
NM_000254.2(MTR):c.2482G>A (p.Gly828Ser)
NM_000254.2(MTR):c.2640_2642del (p.Ile881del) rs797044443
NM_000254.2(MTR):c.2684A>C (p.Gln895Pro)
NM_000254.2(MTR):c.2758C>G (p.His920Asp) rs121913579
NM_000254.2(MTR):c.3140A>T (p.Tyr1047Phe)
NM_000254.2(MTR):c.3227C>T (p.Thr1076Met)
NM_000254.2(MTR):c.3380dup (p.Ala1128fs) rs797044445
NM_000254.2(MTR):c.3439C>T (p.Arg1147Ter)
NM_000254.2(MTR):c.3490C>T (p.Arg1164Cys)
NM_000254.2(MTR):c.3496C>T (p.Leu1166=) rs12030699
NM_000254.2(MTR):c.3514C>T (p.Arg1172Cys)
NM_000254.2(MTR):c.3518C>T (p.Pro1173Leu) rs121913578
NM_000254.2(MTR):c.3613G>T (p.Glu1205Ter) rs121913581
NM_000254.2(MTR):c.899C>T (p.Thr300Met) rs201871910
NM_000254.2(MTR):c.927+1G>C
NM_001291939.1(MTR):c.2044-1041_2044-1040del rs797044444

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